Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.H129H
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TGFB1

NM_000660.7:p.H129H

Associated Papers

The functionality of African-specific variants in the TGFB1 regulatory region and their potential role in HIVAN.

Nel M et al.

Clinical and Experimental Nephrology, 2018

The African-387 C>T TGFB1 variant is functional and associates with the ophthalmoplegic complication in juvenile myasthenia gravis.

Nel M et al.

Journal of Human Genetics, 2016

Novel alleles of the transforming growth factor β-1 regulatory region and exon 1.

Arrieta-Bolaños E et al.

Tissue Antigens, 2015

Transforming growth factor-β1 polymorphisms and the outcome of hematopoietic stem cell transplantation.

Arrieta-Bolaños E et al.

International Journal of Immunogenetics, 2012

Functional impact of sequence variation in the promoter region of TGFB1.

Healy J et al.

International Journal of Cancer, 2009

Non-synonymous gene polymorphisms in the secretory signal peptide of human TGF-beta1 affect cellular synthesis but not secretion of TGF-beta1.

Mohren S et al.

Biochemical and Biophysical Research Communications, 2009

Allelic diversity in the TGFB1 regulatory region: characterization of novel functional single nucleotide polymorphisms.

Shah R et al.

Human Genetics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."